The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics
Open accessAbstract
A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs and breast cancer risk varied by clinically important tumor characteristics in up to 23,039 invasive breast cancer cases and 26,273 controls from 20 studies. We also evaluated their influence on overall survival in 13,527 cases from 13 studies. All participants were of European or Asian origin. rs2981582 in FGFR2 was more strongly related to ER-positive (per-allele OR (95%CI) = 1.31 (1.27-1.36)) than ER-negative (1.08 (1.03-1.14)) disease (P for heterogeneity = 10(-13)). This SNP was also more strongly related to PR-positive, low grade and node positive tumors (P = 10(-5), 10(-8), 0.013, respectively). The association for rs13281615 in 8q24 was stronger for ER-positive, PR-positive, and low grade tumors (P = 0.001, 0.011 and 10(-4), respectively). The differences in the associations between SNPs in FGFR2 and 8q24 and risk by ER and grade remained significant after permutation adjustment for multiple comparisons and after adjustment for other tumor characteristics. Three SNPs (rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21)). rs13281615 in 8q24 was associated with an improvement in survival after diagnosis (per-allele HR = 0.90 (0.83-0.97). The association was attenuated and non-significant after adjusting for known prognostic factors. Our findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Gene expression profiling predicts clinical outcome of breast cancer
van 't Veer, L. J., Dai, H., van de Vijver, M. J., He, Y. D., Hart, A. A. M., Mao, M., Peterse, H. L., van der Kooy, K., Marton, M. J., Witteveen, A. T., et al. (2002) · Nature · doi:10.1038/415530a · Cited by 9,536
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Self-citationthe CORGI Consortium, Tomlinson, I., Webb, E., Carvajal-Carmona, L., Broderick, P., Kemp, Z., Spain, S., Penegar, S., Chandler, I., Gorman, M., et al. (2007) · Nature Genetics · doi:10.1038/ng2085 · Cited by 808
Stacey, S. N., Manolescu, A., Sulem, P., Rafnar, T., Gudmundsson, J., Gudjonsson, S. A., Masson, G., Jakobsdottir, M., Thorlacius, S., Helgason, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2064 · Cited by 786
Self-citationGenome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Zanke, B. W., Greenwood, C. M., Rangrej, J., Kustra, R., Tenesa, A., Farrington, S. M., Prendergast, J., Olschwang, S., Chiang, T., Crowdy, E., et al. (2007) · Nature Genetics · doi:10.1038/ng2089 · Cited by 724
Self-citationMultiple regions within 8q24 independently affect risk for prostate cancer
Haiman, C. A., Patterson, N., Freedman, M. L., Myers, S. R., Pike, M. C., Waliszewska, A., Neubauer, J., Tandon, A., Schirmer, C., McDonald, G. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2015 · Cited by 663
Self-citation
Cited by
Fibroblast growth factor signalling: from development to cancer
Turner, N., & Grose, R. (2010) · Nature Reviews Cancer · doi:10.1038/nrc2780 · Cited by 2,693
FGFR1 Amplification Drives Endocrine Therapy Resistance and Is a Therapeutic Target in Breast Cancer
Turner, N., Pearson, A., Sharpe, R., Lambros, M., Geyer, F., Lopez-Garcia, M. A., Natrajan, R., Marchio, C., Iorns, E., Mackay, A., et al. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-3746 · Cited by 732
p53 polymorphisms: cancer implications
Whibley, C., Pharoah, P. D. P., & Hollstein, M. (2009) · Nature Reviews Cancer · doi:10.1038/nrc2584 · Cited by 665
Self-citationNewly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
SEARCH, Ahmed, S., The GENICA Consortium, kConFab, Australian Ovarian Cancer Study Group, Thomas, G., Ghoussaini, M., Healey, C. S., Humphreys, M. K., Platte, R., et al. (2009) · Nature Genetics · doi:10.1038/ng.354 · Cited by 477
Self-citationZhang, X.-J., Huang, W., Yang, S., Sun, L.-D., Zhang, F.-Y., Zhu, Q.-X., Zhang, F.-R., Zhang, C., Du, W.-H., Pu, X.-M., et al. (2009) · Nature Genetics · doi:10.1038/ng.310 · Cited by 450
Self-citation
Metadata
- Authors
- Garcia-Closas, M., Hall, P., Nevanlinna, H., Pooley, K., Morrison, J., Richesson, D. A., Bojesen, S. E., Nordestgaard, B. G., Axelsson, C. K., Arias, J. I., Milne, R. L., Ribas, G., González-Neira, A., Benítez, J., Zamora, P., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y.-D., Bruening, T., Haas, S., Dörk, T., Schürmann, P., Hillemanns, P., Bogdanova, N., Bremer, M., Karstens, J. H., Fagerholm, R., Aaltonen, K., Aittomäki, K., von Smitten, K., Blomqvist, C., Mannermaa, A., Uusitupa, M., Eskelinen, M., Tengström, M., Kosma, V.-M., Kataja, V., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Chen, X., Australian Ovarian Cancer Management Group, The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Devilee, P., van Asperen, C. J., Jacobi, C. E., Tollenaar, R. A. E. M., Huijts, P. E. A., Klijn, J. G. M., Chang-Claude, J., Kropp, S., Slanger, T., Flesch-Janys, D., Mutschelknauss, E., Salazar, R., Wang-Gohrke, S., Couch, F., Goode, E. L., Olson, J. E., Vachon, C., Fredericksen, Z. S., Giles, G. G., Baglietto, L., Severi, G., Hopper, J. L., English, D. R., Southey, M. C., Haiman, C. A., Henderson, B. E., Kolonel, L. N., Le Marchand, L., Stram, D. O., Hunter, D. J., Hankinson, S. E., Cox, D. G., Tamimi, R., Kraft, P., Sherman, M. E., Chanock, S. J., Lissowska, J., Brinton, L. A., Peplonska, B., Klijn, J. G. M., Hooning, M. J., Meijers-Heijboer, H., Collee, J. M., van den Ouweland, A., Uitterlinden, A. G., Liu, J., Lin, L. Y., Yuqing, L., Humphreys, K., Czene, K., Cox, A., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Blows, F., Driver, K., Dunning, A., Tyrer, J., Ponder, B. A. J., Sangrajrang, S., Brennan, P., McKay, J., Odefrey, F., Gabrieau, V., Sigurdson, A., Doody, M., Struewing, J. P., Alexander, B., Easton, D. F., & Pharoah, P. D.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2008-04-25
- Volume
- 4
- Issue
- 4
- Pages
- e1000054
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2123153543
- Cited by
- 378
- References
- 6
- FWCI
- 28.12
- Type
- journal article
- Language
- en
- Open access
- gold
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics. https://app.cochat.ai/papers/10.1371/journal.pgen.1000054
- The paper
- Garcia-Closas, M., Hall, P., Nevanlinna, H., Pooley, K., Morrison, J., Richesson, D. A., Bojesen, S. E., Nordestgaard, B. G., Axelsson, C. K., Arias, J. I., Milne, R. L., Ribas, G., González-Neira, A., Benítez, J., Zamora, P., Brauch, H., Justenhoven, C., Hamann, U., Ko, Y.-D., . . . Pharoah, P. D. (2008). Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1000054
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
